2017 PATIENT ADVOCATE SHOWCASE

Batten Disease Support and Research Association

BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action. BDSRA is now the largest support and research organization dedicated to Batten disease in North America.

Cure Sanfilippo Foundation

Cure Sanfilippo Foundation is a 501c3 nonprofit whose mission is to advocate for and fund research directed towards a cure or treatment options for children with Sanfilippo Syndrome, a rapidly degenerative and terminal disease, currently with no cure or treatment.

EveryLife Foundation for Rare Diseases

The EveryLife Foundation for Rare Diseases is dedicated to accelerating biotech innovation for rare disease treatments through science-driven public policy. We can do more with the science we already have and bring life-saving treatments to millions of people suffering from rare diseases.

Global Genes

Global Genes® is a leading rare disease patient advocacy organization. Our mission is to eliminate the challenges of rare disease. We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.

Jonah’s Just Begun

Jonah’s Just Begun – Foundation to Cure Sanfilippo Inc. is a 501(c)3. JJB raises funds and then distributes them to academic researchers focused on Sanfilippo Type C. We have two goals: first, to drive the science that will ultimately lead to a cure for Sanfilippo Type C; and second, to raise awareness for all rare diseases. We also empower and encourage others affected by rare diseases to advocate for cures.

LAL SOLACE

The SOLACE organization (Support Organization for LAL Deficiency – Advocacy, Care and Expertise) was created to bring LAL Deficiency patients and families together to share experiences, knowledge and compassion. SOLACE stands for Support Organization for LAL Deficiency – Advocacy, Care & Expertise. The SOLACE organization was created by parents whose children were diagnosed with Wolman Disease who realized there was a need for a caring support community.

MLD Foundation

We C.A.R.E.™ – Compassion, Awareness, Research & Education for metachromatic leukodystrophy (MLD). Global footprint. Very active in Rare Disease policy & awareness, and newborn screening at federal, state & global levels.

National MPS Society

The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

National Organization of Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is the leading nonprofit dedicated to improving the lives of patients and families with rare diseases through programs of advocacy, education, research and financial assistance services.

2017 EXHIBITORS

Alexion Pharmaceuticals, Inc.

Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare disorders, including lysosomal acid lipase deficiency (LAL-D).

Amicus Therapeutics, Inc.

Amicus Therapeutics is a biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases.

BioMarin Pharmaceutical

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only medications for PKU and LEMS, and the first and only enzyme replacement therapies for MPS I, MPS VI and Morquio A syndrome.

Carbosynth LLC

Carbosynth are carbohydrate experts and provide a range of enzyme substrates used in the diagnosis of Lysosomal Storage Diseases such as MPS II and MPS III A.

Fairview Specialty Pharmacy

Fairview Specialty Pharmacy provides comprehensive and individualized drug therapy management for people with rare diseases. Services include care coordination of home infusion and specialty pharmacy, industry partnerships in drug development trials, limited drug distribution programs and outcomes studies.

GSK

GSK is a science-led global healthcare company with a mission to help people do more, feel better, live longer. We research, manufacture and make available a broad range of medicines, vaccines and consumer healthcare products. Visit our exhibit for information about our research areas.

Greenwood Genetic Center

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular testing.

Horizon Pharma

Horizon Pharma plc is a biopharmaceutical company focused on improving patients’ lives by identifying, developing, acquiring and commercializing differentiated and accessible medicines that address unmet medical needs. The Company markets 11 medicines through its orphan, rheumatology and primary care business units.

Invitae

Invitae’s mission is to bring genetic information into mainstream medical practice to improve healthcare for everyone. We offer clinically validated, affordable genetic testing for oncology, cardiology, neurology, pediatric, metabolic and more.

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

LDTRC is a non-profit organization focused on the individual patients with Lysosomal and other rare disorders. LDRTC offers clinical care by the highest standards with a special expertise in translational medicine, and conducts investigator initiated studies, bench-to-bedside studies, self sponsored multi-center collaborative trials, pilot and proof-of-concept studies.

Mayo Medical Laboratories

Mayo Medical Laboratories is a global reference laboratory operating within Mayo Clinic’s Department of Laboratory Medicine and Pathology. Our comprehensive test menu includes biochemical and molecular assays for screening, diagnosing, and monitoring lysosomal storage disorders in both children and adults.

Pfizer, Inc.

At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly improve their lives. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time.

Protalix Ltd.

Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes PRX 102, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for cystic fibrosis and inflammatory bowel disease.

Rare Disease Report

Rare Disease Report® has become the premier source for reliable, up-to-date information for the rare disease community. It brings together clinicians, patients, advocates, industry, and caregivers so that patients’ disease can be managed more efficiently.

Sangamo BioSciences, Inc.

Sangamo BioSciences, the leader in therapeutic genome editing, is focused on developing one-time treatments for monogenic diseases, including lysosomal storage disorders, by deploying its proprietary In Vivo Protein Replacement Platform™ (IVPRP™).

Sanofi Genzyme

Sanofi Genzyme, the specialty care global business unit of Sanofi, focuses on rare diseases, multiple sclerosis, oncology, and immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. Our approach is shaped by our experience developing highly specialized treatments and forging close relationships with physician and patient communities. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world.

Shire

Shire is the leading global biotechnology company focused on serving people with rare diseases and other highly specialized conditions.

ThinkGenetic Foundation

ThinkGenetic A GPS for Genetic Conditions. Utilizing cognitive technology with Watson™, ThinkGenetic is a NEW revolutionary genetic disease website. ThinkGenetic is focused on empowering patients by offering personalized information to help shorten diagnosis time and providing guidance for those living with a genetic condition.

Ultragenyx Pharmaceutical

Ultragenyx is a clinical-stage biotechnology company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases. Recombinant Human Beta-Glucuronidase (rhGUS) is in development as an investigational enzyme replacement therapy for Mucopolysaccharidosis VII (MPS VII, Sly Syndrome).

WORLDSymposium™ 2017 Full Program on Lysosomal Diseases

Monday, Feb. 13 Tuesday, Feb. 14 Wednesday, Feb. 15 Thursday, Feb. 16

9:00 – 12:00	Council of Patient Advocates (COPA)	“WORLD in Translation” workshop
1:00 – 5:00	Pre-Conference Symposium	Emerging Trends: State of the Art for Experts (Registration required)
6:00	Satellite Symposium

Basic and bench research. Following the presentation of the Award for Innovation and Accomplishment in lysosomal disease research, presentations in the morning and afternoon sessions will discuss innovations in technology and how they can be applied to early diagnosis for lysosomal conditions, progress in gene therapy, and exploitation of differences at the cellular level that may indicate early disease state. After the presentations end at 4:30 PM, the evening poster sessions open. Abstracts from over 175 researchers will be presented on Day 1, primarily focused on basic and translational research. Download the WORLDSymposium 2017 program (PDF 165KB).

Basic Science I

Co-Chairs: R. Scott McIvor & Danuta Krotoski

6:30	Satellite Symposia
7:45	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome & Innovation Award Announcement
7:55	Konrad Sandhoff LIMES Institute c/o Kekulé-Institute, Rheinische Friedrich-Wilhelms-Universitaet Bonn Bonn, Germany	Sphingolipidoses membrane lipids regulate and modify sphingolipid catabolism, its enzymes, lipid binding and transfer proteins
8:30	Li Ou University of Minnesota Minneapolis, MN, United States	Proteomic analysis of mucopolysaccharidosis type I mouse brain with two-dimensional polyacrylamide gel electrophoresis
8:45	Yumiko V. Taguchi Yale University New Haven, CT, United States	Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease
9:00	Sharon Byers University of Adelaide Adelaide, Australia	Cell cycle progression is disrupted in murine MPS VII growth plate chondrocytes
9:15	Richard Roberts Minoryx Therapeutics Mataró (Barcelona), Spain	Allosteric, non-inhibitory pharmacological chaperones for the treatment of lysosomal diseases
9:30	Kasturi Haldar University of Notre Dame Notre Dame, IN, United States	Chronic HDACi therapy to treat multiple lysosomal diseases
9:45	Break and Exhibits
10:15	Jeong-A Lim National Institutes of Health Bethesda, MD, United States	Modulation of mTOR signaling as a therapeutic approach for Pompe disease
10:30	Richard W.D. Welford Actelion Pharmaceuticals Allschwil, Switzerland	Lucerastat, an iminosugar for substrate reduction therapy in Fabry disease: preclinical evidence
10:45	Marshall W. Huston Sangamo Biosciences Richmond, CA, United States	Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction
11:00	Spencer Goodman University of California, San Diego La Jolla, CA, United States	Delivery highways: tunneling nanotubes facilitate transfer of therapeutic molecules for gene therapy treatment of cystinosis
11:15	Shih-hsin Kan Los Angeles Biomedical Research Institute at Harbor-UCLA Torrance, CA, United States	AAV5-mediated gene therapy with choroid plexus-directed α-n-acetyl-glucosaminidase expression in Sanfilippo syndrome type B mice
11:30	Lalitha Belur University of Minnesota Minneapolis, MN, United States	Recovery of neurologic function in mucopolysaccharidosis type I mice with existing neurocognitive dysfunction by treatment with AAV9-IDUA vector
11:45	Lunch – On Own or Satellite Symposia

Basic Science II

Co-Chairs: Walter Low, Li Ou & Rashmi Gopal-Srivastava

1:00	Lauren E. Ellis Auburn University Auburn, AL, United States	Cardiovascular manifestations of feline Sandhoff disease after intravenous AAV gene therapy
1:15	Shahzeb Hassan National Institutes of Health Bethesda, MD, United States	Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins
1:30	Mia Horowitz Tel Aviv University Ramat Aviv, Israel	The contribution of mutant GCase to the accumulation and aggregation of alpha synuclein
1:45	Manoj K. Pandey Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Glucosylceramide partnership with immunological villain in Gaucher disease
2:00	Vincent Puy Chu Amiens Amiens, France	In Sanfilippo syndrome, heparan sulfate hexasaccharides are the most pathogenic fractions involved in glia activation.
2:15	Brian Bigger University of Manchester Manchester, United Kingdom	Mucopolysaccharidosis IIIA storage substrate drives an innate immune neuro-inflammatory response
2:30	Melani A. Solomon University of Maryland College Park, MD, United States	Transcytosis alterations in lysosomal diseases
2:45	Break and Exhibits
3:15	Prakrit V. Jena Memorial Sloan Kettering Cancer Center New York, NY, United States	Optical non-invasive detection of Niemann-Pick disease in vitro and in vivo
3:30	Heechun Kwak Mogam Institute for Biomedical Research Yongin, Republic of Korea	MPS II model cell line by CRISPR-Cas9 technique
3:45	Sang-oh Han Duke University Durham, NC, United States	Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease
4:00	Yoseph Shaaltiel Protalix Carmiel, Israel	Characterization of a chemically modified plant cell culture expressed human α-galactosidase-A enzyme for treatment of Fabry disease
4:15	Kohji Itoh Tokushima University Tokushima, Japan	A transgenic silkworm overexpressing human lysosomal enzyme as a novel resource for producing recombinant glycobiologics and its application to development of enzyme replacement therapy for lysosomal diseases
4:30	Poster Reception in the Exhibit Hall	Poster presenters with First Author Last Name starting with A-L displayed
6:30	Satellite Symposium

Translational research. The second day of the meeting turns to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion include modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. After the presentations end at 4:30 PM on Day 2, a second set of poster abstracts will be presented by more than 200 additional researchers, featuring cutting-edge translational and clinical research areas. Download the WORLDSymposium 2017 program (PDF 165KB).

Translational Research I

Co-Chairs: Alessandra Biffi & Danilo Tagle

6:30	Satellite Symposia
7:40	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Announcements
7:45	Elsa G. Shapiro University of Minnesota Minneapolis, MN, United States	Keynote Address: Understanding and measuring neurodegeneration in childhood onset lysosomal diseases
8:15	Patrick V. Hopkins Missouri State Public Health Laboratory Jefferson City, MO, United States	State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases
8:30	Soumeya Bekri Normandie University Rouen University Hospital Rouen, France	Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases
8:45	Abdellah Tebani Normandie University Rouen University Hospital Rouen, France	Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy
9:00	R. Scott McIvor University of Minnesota Minneapolis, MN, United States	Relative effectiveness of different routes of AAV administration for gene therapy of mucopolysaccharidosis
9:15	Russell DeKelver Sangamo BioSciences Richmond, CA, United States	ZFN-mediated in vivo genome editing results in phenotypic correction in murine MPS I and MPS II models
9:30	Hélène F. E. Gleitz University of Manchester Manchester, United Kingdom	Whole body correction of severe mucopolysaccharidosis type II by lentiviral-mediated stem cell gene therapy with blood-brain barrier-crossing peptides
9:45	Break and Exhibits
10:15	Kelly M. Podetz-Pedersen University of Minnesota Minneapolis, MN, United States	Neurologic improvement in a mouse model of Hunter syndrome (mucopolysaccharidosis type II) by treatment with AAV9 vector after the development of cognitive dysfunction
10:30	Tatiana Lobry University of California, San Diego San Diego, CA, United States	Towards a phase I clinical trial for autologous hematopoietic stem cells transplantation in cystinosis
10:45	Claire O’Leary University of Manchester Manchester, United Kingdom	Gene therapy mediated correction of neurological manifestations of MPS IIIC using a novel AAV serotype
11:00	Eun-Young Choi National Institutes of Health Bethesda, MD, United States	Dose-ranging comparison of choroid plexus-directed versus pan-neuronal-directed recombinant AAV gene therapy in a murine model of alpha-mannosidosis
11:15	Alejandra J. Rozenberg University of North Carolina at Chapel Hill Chapel Hill, NC, United States	Early intrathecal gene therapy extends lifespan and improves quality of life in a mouse model for infantile neuronal ceroid lipofuscinosis
11:30	Heather L. Gray-Edwards Auburn University Auburn, AL, United States	Long term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicistronic AAV gene therapy vector
11:45	Lunch – On Own or Satellite Symposia

Translational Research II

Co-Chairs: Yoshikatsu Eto & Ellen Sidransky

1:00	Reid Martin BioStrategies-LC Jonesboro, AR, United States	Receptor-independent mechanisms of RTB lectin-mediated ERT delivery provide unique advantages in enzyme uptake capacity, transcytosis, and lysosomal correction
1:15	Grzegorz Wegrzyn University of Gdansk Gdansk, Poland	Genistein – a lysosomal stimulator for treatment of various lysosomal diseases
1:30	Andrew D. Baik Regeneron Pharmaceuticals Tarrytown, NY, United States	Engineering tissue specific delivery of enzymes for lysosomal disease treatment
1:45	Edward H. Schuchman Icahn School of Medicine at Mount Sinai New York, NY, United States	Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency
2:00	Chanchala Kaddi Sanofi Genzyme Cambridge, MA, United States	Quantitative systems pharmacology model of acid sphingomyelinase deficiency and the enzyme replacement therapy olipudase alfa is an innovative tool for linking pathophysiology and pharmacology
2:15	Hung Do Amicus Therapeutics, Inc. Cranbury, NJ, United States	Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase functional muscle strength in a mouse model of Pompe disease
2:30	Han-Hyuk Lim Duke University Medical Center Durham, NC, United States	Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease
2:45	Break and Exhibits
3:15	Thomas Kirkegaard Orphazyme Copenhagen, Denmark	Heat shock protein-based therapy for sphingolipidoses
3:30	Hojun Choi Korea Advanced Institute of Science & Technology Daejeon, Republic of Korea	Delivery of lysosomal enzymes via EXPLOR: exosome engineered for protein loading by optogenetically reversible protein interaction
3:45	Jess G. Thoene University of Michigan Ann Arbor, MI, United States	Microvesicle-mediated delivery of cystinosin to rabbit cornea
4:00	Gustavo Maegawa University of Florida Gainesville, FL, United States	Identification of psychosine-reducing small molecule agents for Krabbe disease
4:15	N. Matthew Ellinwood Iowa State University Ames, IA, United States	Preliminary findings of a twenty-six week or longer intracerebroventricular infusion study of BMN 250 administered once every 2 weeks in a canine model of mucopolysaccharidosis type IIIB
4:30	Poster Reception in the Exhibit Hall	Poster presenters with First Author Last Name starting with M-Z and all Late-Breaking abstracts displayed
6:30	Satellite Symposium

Clinical research. The entire third day of WORLDSymposium is committed to presentations of results from clinical trials, which in most cases is the actual application of new agents in humans affected by these conditions. Day 3 will also include presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2017 program (PDF 165KB).

Clinical Trials I

Co-Chairs: Lynda Polgreen & Frits Wijburg

6:30	Satellite Symposium
7:40	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Announcements
7:45	Richard A. Moscicki Food and Drug Administration Silver Spring, MD, United States	Keynote Address: An FDA Perspective on Rare Disease Drug Development
8:15	Pramod K. Mistry Yale University School of Medicine New Haven, CT, United States	Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease
8:30	Timothy M. Cox University of Cambridge Addenbrooke’s Hospital Cambridge, United Kingdom	Maintenance of quality of life in adults with type 1 Gaucher disease previously stabilized on enzyme therapy who were switched to oral eliglustat: 4 year results of the ENCORE trial
8:45	Ari Zimran Shaare Zedek Medical Center Jerusalem, Israel	Pharmacokinetics, safety, and efficacy of rapid infusions of velaglucerase alfa in adult patients with Gaucher disease
9:00	Line Borgwardt University Hospital of Copenhagen Rigshospitalet Copenhagen, Denmark	Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
9:15	Ana Cristina Puga Sanofi Genzyme Cambridge, MA, United States	Olipudase alfa for the treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
9:30	Melissa Wasserstein Children’s Hospital at Montefiore Bronx, NY, United States	The New York pilot newborn screen for lysosomal diseases: 40 month data
9:45	Break and Exhibits
10:15	Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany	Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: interim results from an ongoing multicenter, multinational extension study
10:30	Francyne Kubaski University of Delaware Newark, DE, United States	Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis type II
10:45	Troy Lund University of Minnesota Minneapolis, MN, United States	Triple therapy for MPS IH: intrathecal iduronidase, IV-ERT, and hematopoietic cell transplant
11:00	Agnes Chen Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center Torrance, CA, United States	A randomized open-label clinical trial of intrathecal recombinant human alpha-l-iduronidase for cognitive decline in mucopolysaccharidosis type I
11:15	Roberto Giugliani Hospital de Clinicas de Porto Alegre Porto Alegre, Brazil	Intravenous infusion of iduronidase-IgG and its impact on the central nervous system in children with Hurler syndrome
11:30	Christian J. Hendriksz University of Pretoria Pretoria, South Africa	Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A
11:45	Lunch – On Own or Satellite Symposia

Clinical Trials II

Co-Chairs: James Cloyd & Jill Morris

1:00	Rossella Parini Fondazione MBBM, Azienda Ospedaliera San Gerardo Monza, Italy	Sub-analysis of long-term elosulfase alfa treatment outcomes in adults with Morquio syndrome type A
1:15	Marc Tardieu Université Paris Sud Le Kremlin-Bicêtre, France	Intracerebral administration of rAAV2/5hNAGLU vector in children with MPS IIIB: results at 30 months of a phase I/II trial
1:30	Kevin M. Flanigan Research Institute of Nationwide Children’s Hospital Columbus, OH, United States	Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect
1:45	Paul Harmatz Children’s Hospital Oakland Oakland, CA, United States	A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII
2:00	Barbara K. Burton Northwestern University Chicago, IL, United States	Long-term benefit of sebelipase alfa over 76 weeks in children and adults with lysosomal acid lipase deficiency (LAL-D) (ARISE)
2:15	Mark Friedman Alexion Pharmaceuticals, Inc. New Haven, CT, United States	Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency
2:30	Uma Ramaswami Royal Free London NHS Foundation Trust, University College London London, United Kingdom	A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells
2:45	Break and Exhibits
3:15	Ans van der Ploeg Erasmus MC University Medical Center Rotterdam, Netherlands	Long-term efficacy of alglucosidase alfa in late-onset Pompe disease
3:30	Dominique P. Germain University of Versailles–St. Quentin en Yvelines (UVSQ) Montigny, France	Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study
3:45	Derralynn Hughes Royal Free Hospital, NHS Foundation Trust, University College London London, United Kingdom	One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy
4:00	Ulla Feldt-Rasmussen Rigshospitalet Copenhagen University Hospital Copenhagen, Denmark	Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT
4:15	David Warnock University of Alabama – Birmingham Birmingham, AL, United States	PRX-102 for treating Fabry disease – immunogenicity and PK results from a phase 1-2 study
6:00	Banquet and Award Ceremony	Young Investigator Awards Patient Advocate Leader Award New Treatment Award Tickets Required

2017 Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-art for Experts

Monday, February 13, 2017 from 1:00 – 5:00 PM

For the fifth consecutive year, WORLDSymposium™ began with “Emerging Trends” on Monday afternoon, February 13, 2017 at 1:00 PM. This 4-hour CME course provides a state-of-the-art update for experts working in lysosomal biology and lysosomal diseases. This course is a summary of the latest research trends and other advances in the field. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases. Presentations are at the postgraduate level, e.g., those with a PhD, MD, PharmD, DDS, MS, MPH, etc. The content provides comprehensive information on lysosomal diseases, but does not overlap or replace the scientific data being presented during WORLDSymposium 2017.

Learning Objectives

Upon completion of this educational activity, the participant should be better able to:

Describe the basic structure, function and molecular biology of lysosomes.
Identify specific lysosomal diseases, their clinical manifestations, and means of diagnosis.
Review current treatments for lysosomal diseases, the potential side effects, and their expected clinical outcomes.
Correlate the molecular biology of lysosomes with clinical features, diagnostic testing, and treatment approaches.

Preliminary Agenda

1:00 PM
Welcome: Rationale and Course Goals
Chester B. Whitley, PhD, MD

1:10 PM
Molecular Biology and Cell Biology of Lysosomes
Steven U. Walkley, DVM, PhD

2:00 PM
Lysosomal Testing and Outcome Measures
Chester B. Whitley, PhD, MD

2:55 PM
Break

3:10 PM
Treatments for Lysosomal Diseases
Jeanine R. Utz, PharmD

4:00 PM
Remarkable Cases
Marc C. Patterson, MD

4:55 PM
Final Q&A and Evaluation

5:00 PM
Adjourn

Invited Faculty

Chair: Chester B. Whitley, PhD, MD
Principal Investigator, Lysosomal Disease Network
Professor of Pediatrics,
Department of Pediatrics,
University of Minnesota,
Minneapolis, MN, USA

Marc C. Patterson, MD, FRACP
Chair – Division of Child and Adolescent Neurology
Professor of Neurology, Pediatrics and Medical Genetics
Director of the Child Neurology Training Program,
Mayo Clinic Children’s Center
Rochester, MN, USA

Jeanine R. Utz, PharmD, BCOP, BCPS
Adjunct Assistant Professor, Experimental and Clinical Pharmacology
College of Pharmacy
University of Minnesota, Fairview
Minneapolis, MN, USA

Steven U. Walkley, DVM, PhD
Professor, Dominick P. Purpura Department of Neuroscience
Professor, Department of Pathology
Professor, The Saul R. Korey Department of Neurology
Director, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center,
Albert Einstein College of Medicine
Rose F. Kennedy Center
Bronx, NY, USA

Konrad Sandhoff, PhD Received 2017 Award for Innovation and Accomplishment

Konrad Sandhoff completed his PhD in biochemistry in Munich. After early research in Munich, Israel and the USA, he became Professor of Biochemistry at the University of Bonn in 1979. Since 2007 he has been a Senior Professor at the LIMES Institute in Bonn, Germany. Professor Sandhoff’s major research interests are focused on molecular life sciences including the analysis and pathobiochemistry of lysosomal (glyco-) sphingolipid storage diseases, the structure and function of lysosomal enzymes and lipid binding proteins, the topology of endocytosis and glycolipid metabolism, and regulation of glycolipid biosynthesis. He has published more than 480 peer-reviewed papers, and has received more than 15 renowned national and international awards. Professor Sandhoff’s early investigation and analysis led to the identification of several biochemically distinct lysosomal diseases, including a variant of GM2-Gangliosidosis which was named “Sandhoff disease“ in 1971.

Professor Sandhoff received the 2017 Award for Innovation and Accomplishment at the opening session of WORLDSymposium 2017 on Tuesday, February 14, 2017 at 7:45 AM.

Click here for more information about the Innovation and Accomplishment award.

2017 Poster Sessions

Click here to download the 2017 poster list.

All abstracts received by the October 1, 2016 deadline were considered for platform presentation and inclusion in the lysosomes issue of Molecular Genetics and Metabolism which was published in February 2017.

Late-breaking abstract submission (for poster consideration only) opened on November 1 and closed on December 1, 2016. Accepted late-breaking abstracts were not published in the February 2017 “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM).

Registered attendees received an electronic copy of the program and abstracts when they checked in at the WORLDSymposium 2017 registration desk. The program and abstracts become copyrighted and are available to non-registrants through Elsevier.

NEW IN 2017: POSTERS WERE DIVIDED INTO TWO SEPARATE SESSIONS

Poster receptions were scheduled on Tuesday, February 14, 2017 and Wednesday, February 15, 2017 from 4:30 – 6:30 PM.

Poster presenters with a last name starting with A-L (First Author Last Name) presented their posters on Tuesday, February 14, 2017, from 4:30-6:30 PM.

Poster presenters with a last name starting with M-Z (First Author Last Name) presented their posters on Wednesday, February 15, 2017, from 4:30-6:30 PM.

All late-breaking abstracts were assigned to the poster session on Wednesday, February 15, 2017, from 4:30-6:30 PM.

Elsa Shapiro, PhD, Delivered Keynote on Wednesday, February 15, 2017

Elsa Shapiro, PhD, is Professor of Pediatrics and Neurology in the Division of Pediatric Behavioral Neuroscience at the University of Minnesota. She is retired, but remains a part-time faculty member. She has a PhD in Psychology from the University of Minnesota, completed her internship and post-doctoral training at National Children’s Medical Center in Washington, DC, and is board certified in clinical psychology. Dr. Shapiro is known for research in neurobehavioral and neuroimaging manifestations of genetic neurodegenerative disorders. She developed methods of longitudinal assessment of neurocognitive functions, delineated the neurocognitive phenotypes of several genetic disorders, studied the relationships between quantitative neuroimaging and neuropsychology in treated and untreated children, and examined the characteristics of dementia in children with neurodegenerative disease. She has authored more than 100 peer-reviewed publications and invited chapters. Recently, she was the co-Principal Investigator of the NIH-supported Lysosomal Disease Network, and Principal Investigator of Longitudinal Studies of Brain Structure and Function in the Mucopolysaccharidoses until 2014. She was also co-Principal Investigator of a Natural History study of MPS III. She currently offers consulting services to provide assistance with neurocognitive endpoints in patients with rare diseases.

Dr. Shapiro also has a strong interest in the effects of poverty on the developing brain, and previously led a large study of the effects of lead burden and other social and biological variables on the cognitive development of high-risk inner city children. She has also consulted on the effects of cerebral malaria and HIV on neurodevelopment in Ugandan children. In addition to her research, she was the founder of the Pediatric Neuropsychology clinic and training program at the University of Minnesota in 1974, training many post-doctoral fellows. She has mentored 11 fellows and junior faculty in research in neurodegenerative diseases. She now lives in Portland, Oregon.

Dr. Shapiro delivered a Keynote Address at WORLDSymposium 2017, Understanding and Measuring Neurodegeneration in Childhood Onset Lysosomal Diseases, on Wednesday, February 15, 2017 at 7:45 AM.

Keynote Address on Thursday, February 16, 2017 presented by Richard Moscicki, MD, Deputy Center Director for Science Operations, U.S. FDA

Richard Moscicki, MD, from the U.S. Food and Drug Administration (FDA) presented the Thursday, February 16th Keynote Address at WORLDSymposium 2017.

Richard (Rich) A. Moscicki (Mo-shis-ke), MD, joined the U.S. Food and Drug Administration’s (FDA) Center for Drug Evaluation and Research (CDER), as Deputy Center Director for Science Operations. A nationally recognized expert in clinical research and development, Dr. Moscicki brings to the position executive direction of Center operations and leadership in overseeing the development, implementation, and direction of CDER’s programs.

Before joining CDER, Dr. Moscicki served as senior vice president (SVP), Head of Clinical Development at Genzyme Corporation. He joined Genzyme in 1992 as medical director and became the chief medical officer and SVP of biomedical and regulatory affairs in 1996 — holding that post until 2011. Over the past two decades, Dr. Moscicki has been responsible for worldwide global regulatory and pharmacovigilance matters, as well as all aspects of clinical research and medical affairs for the company.

Dr. Moscicki received his medical degree from Northwestern University Medical School. He is board certified in internal medicine, diagnostic and laboratory immunology, and allergy and immunology. He completed his residency with a focus on immunology, followed by a four-year fellowship at Massachusetts General Hospital (MGH) in immunology and immunopathology. He remains on staff at MGH and on the faculty of Harvard Medical School.

Dr. Moscicki presented An FDA Perspective on Rare Disease Drug Development at WORLDSymposium 2017 on Thursday, February 16, 2017, from 7:45-8:15 AM.

2017 WORLDSymposium Young Investigator Awards Announced

Congratulations to the ten individuals selected to receive the WORLDSymposium Young Investigator Award for 2017. The award is a partial scholarship towards attendance at WORLDSymposium 2017. Numerous individuals submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applicants.

WORLDSymposium would like to congratulate all of the applicants for their hard work. The following individuals received the WORLDSymposium Young Investigator Award for 2017 and were recognized at the closing banquet and award ceremony on Thursday, February 16, 2017:

Brendan Beaton
Carolina Cardona
Shahzeb Hassan
Shih-hsin Kan
Francyne Kubaski
Reid Martin
Stephanie Newman
Li Ou
Vincent Puy
Dora Lucia Vallejo Ardila

WORLDSymposium 2017 Patient Advocate Leader (PAL) Award

WORLDSymposium recognized Christine Lavery, MBE, Group Chief Executive for the UK Society for Mucopolysaccharide Diseases, with the 2017 Patient Advocate Leader (PAL) Award.

Christine Lavery founded the United Kingdom (UK) Society for Mucopolysaccharide Diseases (MPS Society) in 1982 following the death of her firstborn son, Simon, from Hunter disease. She started her career in the voluntary sector with ‘Contact a Family’ and for ten years she helped parents establish over 200 rare disease patient organisations. In 1993, she was appointed Chief Executive of the MPS Society, where she pioneered the Patient Advocacy Service. The Patient Advocacy Service is recognised as a gold standard as well a leading organisation that has awarded over £5 million in grants for academic and clinical research.

Christine established the 30 year old MPS International Network as well as serving on four medical advisory panels including the National Health Service England Lysosomal Storage Disorders Advisory Board.

In 2002, Christine was awarded the Member of the British Empire (MBE) for her services to metabolic diseases by Her Majesty (HM) Queen Elizabeth II in the New Year’s Honours List. In 2006 she received ‘A Life Time Award’ from the International MPS Community at the 2006 International Symposium on Mucopolysaccharide and Related Diseases.

In 2013 Christine launched MPS Commercial, a wholly-owned subsidiary of the MPS Society, to enhance logistical support to patients with rare diseases and their families participating in commercial and academic clinical trials and health technology assessments.

WORLDSymposium honored Christine with the 2017 Patient Advocate Leader Award on Thursday, February 16, 2017 at 6:00 PM at the WORLDSymposium Banquet and Award Ceremony.

Click here for more information about the Patient Advocate Leader award.

2018 PATIENT ADVOCATE SHOWCASE

Cure Sanfilippo Foundation

EveryLife Foundation for Rare Diseases

Global Genes

Jonah’s Just Begun

MLD Foundation

National MPS Society

National Organization of Rare Disorders (NORD)

Project Alive

Project Alive is a 501(c)(3) nonprofit with a mission to cure Hunter Syndrome / MPS II by supporting effective and efficient research and engaging in advocacy. Project Alive funds research and assists with the design of research and clinical programs to treat Hunter Syndrome.

2018 EXHIBITORS

Alexion Pharmaceuticals, Inc.

Alexion is a global biopharmaceutical company focused on serving patients and families affected by rare diseases, including lysosomal acid lipase deficiency (LAL-D), through the innovation, development and commercialization of life-changing therapies.

Amicus Therapeutics, Inc.

Amicus Therapeutics is a global biotechnology company at the forefront of therapies for rare and orphan diseases. The Company has a robust pipeline of advanced therapies for a broad range of human genetic diseases.

Audentes Therapeutics

Audentes Therapeutics is a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases. We have four product candidates in development including AT982 for the treatment of Pompe disease. We are committed to forging strong, global relationships with the patient, research and medical communities.

Baebies

Baebies, guided by the vision that “everyone deserves a healthy start,” delivers innovative products and services for newborn screening and pediatric testing. SEEKER® is the only newborn screening platform authorized by the FDA and CE Marked for lysosomal storage diseases. FINDERTM is a rapid near-patient newborn testing solution that is still under development and not available at this time for sale or use in any territory. By bringing new technologies and new tests to the healthcare community, Baebies is providing hope to parents and the chance at a better life for millions of children.

BioMarin Pharmaceutical

Carbosynth

Manufacturer of Enzyme Substrates for Laboratory use for Lysosomal Storage Diseases.

Chiesi Farmaceutici S.p.A.

Based in Parma, Italy, Chiesi Farmaceutici is an international research-focused Healthcare Group, with over 80 years of experience in the pharmaceutical industry. Chiesi researches, develops and markets innovative drugs in the respiratory therapeutics, specialist medicine and rare disease areas. Chiesi employs nearly 5,000 people.

Fairview Specialty Pharmacy

GlycoAnalytics, UC San Diego

Leveraging the strength of academic and pharmaceutical research and development, the UC San Diego GlycoAnalytics Core offers advance glycan analytical services worldwide. Our specialties include high throughput analysis of glycosaminoglycans including Non Reducing End (NRE)-analysis, glycosphingolipids (GSL) analysis and N/O-linked glycan analysis relevant for various lysosomal storage disorders.

Greenwood Genetic Center

Invitae

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

Mayo Medical Laboratories

Pfizer, Inc.

Protalix Ltd.

Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes pegunigalsidase alfa, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for cystic fibrosis and inflammatory bowel disease.

QPS Austria GmbH

Founded in 1995, QPS is a GLP/GCP-compliant contract research organization (CRO) supporting discovery, preclinical and clinical drug development. We provide quality services to pharmaceutical and biotechnology clients worldwide. Our linearly integrated core competencies include: Neuropharmacology, DMPK, Toxicology, Bioanalysis, Translational Medicine, Early Stage Clinical Research, Phase II-IV Clinical Research, Program Management.

Rare Disease Report

Rare Disease Report® has become the premier source for reliable, up-to-date news and insights for the rare disease community. Our goal is to collaborate and educate clinicians, patients, caregivers, advocacy and industry so rare diseases can be managed more effectively.

Sangamo Therapeutics

Sangamo Therapeutics, Inc. is focused on translating ground-breaking science into genomic therapies that transform patients’ lives using the company’s industry leading platform technologies in genome editing, gene therapy, gene regulation and cell therapy.

Sanofi Genzyme

Shire

Shire is the leading global biotechnology company focused on serving people with rare diseases and other highly specialized conditions. We strive to develop best-in-class products across our core therapeutic areas including Hematology, Immunology, Neuroscience, Ophthalmics, Lysosomal Storage Disorders, Gastrointestinal/Internal Medicine/Endocrine, Hereditary Angioedema, and Oncology.

Ultragenyx Pharmaceutical

Ultragenyx is a biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. The Company has rapidly built and advanced a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.

2018 Satellite Symposia Schedule

Monday Dinner, February 5, 2018, 6:30 – 8:30 PM
Mitigating Bone Manifestations of Gaucher Disease: Contemporary Evidence and Future Considerations
CME Satellite Symposium. This activity was supported by an educational grant from Sanofi Genzyme.
Provided by Med-IQ.

Tuesday Breakfast, February 6, 2018, 6:30 – 7:30 AM
Normalization in Type 1 Gaucher Disease – Does it matter?
Supported by Shire.
This satellite was open only to registered attendees from outside the United States. International participants only.

Tuesday Breakfast, February 6, 2018, 6:30 – 7:30 AM
The Case for Cerdelga® (eliglustat): The Only First-Line Oral Treatment for Most Adults with Gaucher Disease
Supported by Sanofi Genzyme.

Tuesday Lunch, February 6, 2018, 11:45 AM – 12:45 PM
Changing lives: Long-term outcomes of MPS IVA & VI patients
Supported by BioMarin Pharmaceutical.

Tuesday Lunch, February 6, 2018, 11:45 AM – 12:45 PM
Advancing the Understanding in Rare Diseases: Acid Sphingomyelinase Deficiency, GBA-associated Parkinson’s Disease and Gaucher Disease Type 3
Supported by Sanofi Genzyme.

Tuesday Dinner, February 6, 2018, 6:30 – 8:30 PM
Responding to the Challenge of Pompe Disease
CME Satellite Symposium. Supported by an independent educational grant from Sanofi Genzyme.
Provided by EXCEL Continuing Education.

Wednesday Breakfast, February 7, 2018, 6:30 – 7:30 AM
Novel Treatment Approaches and Study Designs for Rare Diseases
Supported by Ultragenyx.

Wednesday Breakfast, February 7, 2018, 6:30 – 7:30 AM
More than a glycolipid storage disorder – the role of inflammation in Fabry disease
Supported by Shire.
This satellite was open only to registered attendees from outside the United States. International participants only.

Wednesday Lunch, February 7, 2018, 11:45 AM – 12:45 PM
Clinical experience with migalastat▼ in Europe for the treatment of Fabry disease in patients with amenable mutations
Supported by Amicus Therapeutics, Inc.
This satellite was open only to registered attendees from outside the United States. International participants only.

Wednesday Lunch, February 7, 2018, 11:45 AM – 12:45 PM
Cognitive impairment in patients with MPS II: From disease burden to cognitive testing
Supported by Shire.

Wednesday Dinner, February 7, 2018, 6:30 – 8:30 PM
The Lysosomal Disease Exchange: Optimizing Diagnosis and Future Management
CME Satellite Symposium.This activity was supported by an independent educational grant from Sanofi Genzyme.
Jointly provided by the Elsevier Office of Continuing Medical Education and Excerpta Medica.

Thursday Breakfast, February 8, 2018, 6:30 – 7:30 AM
Creating Hope for the Unreachable, Unprofitable and Unthinkable Patient
Sponsored by Care Beyond Diagnosis Foundation, in conjunction with the MPS Society UK and the European Gaucher Alliance.
Supported via unrestricted educational grants from Chiesi Farmaceutici, Shire and FYMCA Medical Ltd.

Thursday Breakfast, February 8, 2018, 6:30 – 7:30 AM
Genotype and phenotype in Fabry disease: Early manifestations, measurement of disease severity, and considerations for monitoring progression
Supported by Sanofi Genzyme.

Thursday Lunch, February 8, 2018, 11:45 AM – 12:45 PM
Genetics: Unlocking the Future of Pediatric Epilepsies, Insights from the CLN2 Experience
Supported by BioMarin Pharmaceutical.

Thursday Lunch, February 8, 2018, 11:45 AM – 12:45 PM
Early treatment of lysosomal disorders: a closer look at Fabry and Pompe disease
Supported by Amicus Therapeutics, Inc.

Registration for the 14th Annual Scientific Meeting and an official WORLDSymposium name badge were required to attend any of the satellite symposia. Titles and content for Satellite Symposia were posted as information became available.

These Satellite Symposia were not part of the official WORLDSymposium™ 2018 program, and WORLDSymposium did not approve or endorse any commercial products or services discussed during these Symposia or offered for sale by the corporate supporter of the Symposium. These Symposia may or may not offer CME credits; these sessions were not approved for CME through WORLDSymposium.

2018 Poster Session Abstracts

Over 410 abstracts were presented at the two WORLDSymposium™ 2018 poster sessions. This was an excellent opportunity to see, hear and discuss specific research topics directly with the abstract authors, as well as enjoy hors d’oeuvres and a cash bar with colleagues from around the globe.

Click here to download the 2018 poster list.

If a poster number is not listed, it means the first author of the abstract chose not to present a poster at WORLDSymposium 2018.

All abstracts received by the October 1, 2017 deadline were considered for platform presentation and inclusion in the lysosomes issue of Molecular Genetics and Metabolism (MGM) which was published in February 2018. Poster notifications and assigned poster numbers were sent to the first author of the submitted abstract at the beginning of December, 2017.

Late-breaking abstract submission (for poster consideration only) opened on November 1 and closed on December 1, 2017. Accepted late-breaking abstracts were not published in the February 2018 “Lysosomes Issue” of Molecular Genetics and Metabolism.

Registered attendees received an electronic copy of the program and abstracts when they check in at the WORLDSymposium 2018 registration desk. The program and abstracts became copyrighted and were available to non-registrants through Elsevier.

It is the policy of WORLDSymposium to publish all abstracts with the list of authors exactly as the abstract were submitted to WORLDSymposium. The first author of the submitted abstract was listed as the presenting author on the Preliminary Program, Agenda, and Poster List.

2018 Poster Sessions

Poster receptions were scheduled on Tuesday, February 6, 2018 and Wednesday, February 7, 2018 from 4:30 – 6:30 PM.

Poster presenters with a last name starting with A-L (First Author Last Name) presented their posters on Tuesday, February 6, 2018, from 4:30-6:30 PM.

Poster presenters with a last name starting with M-Z (First Author Last Name) presented their posters on Wednesday, February 7, 2018, from 4:30-6:30 PM.

All late-breaking abstracts were assigned to the poster session on Wednesday, February 7, 2018, from 4:30-6:30 PM.

Poster presenters were required to be in attendance at their poster for their assigned timeframe. The poster sessions provided an excellent opportunity to discuss concepts, share knowledge, and exchange ideas with abstract authors and other WORLDSymposium participants.

WORLDSymposium™ 2018 Full Program on Lysosomal Diseases

Monday, Feb. 5 Tuesday, Feb. 6 Wednesday, Feb. 7 Thursday, Feb. 8

8:30 – 12:00	Council of Patient Advocates (COPA)	Lysosomal Disease Network’s (LDN) Workshop WORLD Translation and WORLD Activation
1:00 – 5:00	Pre-Conference Symposium	Emerging Trends: State of the Art for Experts (Registration required)
5:15	Awards Ceremony	Young Investigator Awards and New Treatment Award Presented. Harbor Foyer.
5:30 – 6:30	Opening Reception	Harbor Ballroom (Exhibit Hall) – Open to all attendees
6:30	Satellite Symposium

Basic and bench research. Following the presentation of the Award for Innovation and Accomplishment in lysosomal disease research, presentations in the morning and afternoon sessions discussed innovations in technology and how they can be applied to early diagnosis for lysosomal conditions, progress in gene therapy, and exploitation of differences at the cellular level that may indicate early disease state. After the presentations ended at 4:30 PM, the evening poster sessions opened. Abstracts from over 175 researchers were presented on Day 1, primarily focused on basic and translational research. Download the WORLDSymposium 2018 program (PDF 175KB).

Basic Science I

Co-Chairs: Walter Low & Danuta Krotoski

6:30	Satellite Symposia
7:45	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome & Innovation Award Announcement
7:55	Mark Haskins University of Pennsylvania Philadelphia, PA, United States	“…standing on the shoulders of Giants”
8:30	Patricia Dickson Harbor-UCLA/LABioMed Torrance, CA, United States	Neuroimaging and neuropathology reveal progressively abnormal white matter and cerebrospinal fluid volume in MPS I dogs
8:45	Roselena S. Schuh Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil	Intravenous and intranasal genome editing using the CRISPR/Cas9 system leads to long-term improvements in MPS I mice
9:00	Jillian R. Brown TEGA Therapeutics La Jolla, CA, United States	Guanidinylated neomycin conjugation enhances intranasal enzyme replacement in the brain
9:15	Yanyan Peng Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease
9:30	Jenny Serra-Vinardell National Institutes of Health Bethesda, MD, United States	Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders
9:45	Break and Exhibits
10:15	Mia Horowitz Tel Aviv University Ramat Aviv, Israel	The contribution of mutant glucocerebrosidase to the aggregation of alpha synuclein
10:30	Simon Heales Great Ormond Street Hospital/UCL London, United Kingdom	Lysosomal glucocerebrosidase inhibition is associated with perturbed dopamine turnover: a mechanistic insight into the link between Gaucher and Parkinson’s disease
10:45	Benjamin McMahon National Institutes of Health Bethesda, MD, United States	The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease
11:00	Nadav I. Weinstock SUNY Buffalo Buffalo, NY, United States	GALC ablation in Schwann cells produces a demyelinating peripheral neuropathy characterized by psychosine formation but lacking globoid cells
11:15	Brian W. Bigger University of Manchester Manchester, United Kingdom	Interleukin-1 plays a central role in behaviour abnormalities in mucopolysaccharidosis type III (MPS III)
11:30	Chelsee T. Sauni Phoenix Nest, Inc Brooklyn, NY, United States	Pilot enzyme replacement therapy with recombinant human glucosamine (N-acetyl)-6-sulfatase in mucopolysaccharidosis type IIID mouse model
11:45	Lunch – On Own or Satellite Symposia; Exhibit Hall Open

Basic Science II

Co-Chairs: Brian Bigger & Jill Morris

1:00	Alexey V. Pshezhetsky CHU Ste-Justine, University of Montreal Montreal, QC, Canada	Chaperone therapy for mucopolysaccharidosis type IIIC
1:15	Sharon Byers SA Pathology (WCH site) Nth Adelaide, Australia	Chondrogenesis and osteogenesis are delayed by MPS IVA keratan sulphate but not normal keratan sulphate
1:30	Fabian PS. Yu University of Toronto Toronto, ON, Canada	Ocular pathology and visual impairment in a mouse model of acid ceramidase deficiency
1:45	Salvatore Molino Medical College of Wisconsin Milwaukee, WI, United States	Hepatocellular dysfunction and gene expression changes in the acid ceramidase deficient mouse
2:00	Daesung Shin SUNY Buffalo Buffalo, NY, United States	Temporal Galc deletion reveals a critical vulnerable period in the pathogenesis of Krabbe leukodystrophy
2:15	Rebecca Ahrens-Nicklas The Children’s Hospital of Philadelphia Philadelphia, PA, United States	Neuronal network dysfunction in juvenile neuronal lipofuscinosis
2:30	Hemanth R. Nelvagal Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center and David Geffen School of Medicine, University of California, Los Angeles Torrance, CA, United States	Early gait abnormalities relate to brainstem and spinal cord pathology in CLN1 disease
2:45	Break and Exhibits
3:15	Zhirui Jiang The University of Adelaide Adelaide, Australia	MPS VII mice display reduced circulating IGF1 and disrupted cell cycle progression in the growth plate
3:30	Christina R. Mikulka Washington University School of Medicine St. Louis, MO, United States	Eliminating cross-correction allows for cell-specific expression of the lysosomal enzyme galactocerebrosidase in the twitcher mouse
3:45	Murtaza S. Nagree University of Toronto Toronto, ON, Canada	In vivo enrichment of transduced cells to enhance gene therapy for Fabry disease
4:00	Daphne Chen University of North Carolina, Chapel Hill Chapel Hill, NC, United States	Identification of novel AAV capsids for treatment of lysosomal disorders
4:15	Li Ou University of Minnesota Minneapolis, MN, United States	Metabolomics profiling of mice and patients with Sandhoff disease to identify biomarkers
4:30	Poster Reception in the Exhibit Hall	Poster presenters with First Author Last Name starting with A-L displayed
6:30	Satellite Symposium

Translational research. The second day of the meeting turned to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion included modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. After the presentations ended at 4:30 PM on Day 2, a second set of poster abstracts were presented by more than 200 additional researchers, featuring cutting-edge translational and clinical research areas. Download the WORLDSymposium 2018 program (PDF 175KB).

Translational Research I

Co-Chairs: Dan Tagle & Scott McIvor

6:30	Satellite Symposia
7:45	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Patient Advocate Leadership Award
8:00	Petra Kaufmann National Institutes of Health Bethesda, MD, United States	Keynote Address: NCATS Rare Diseases Research Update 2018
8:30	Natalia Gomez-Ospina Lucile Packard Children’s Hospital Stanford, CA, United States	Engineering blood stem cells for autologous transplants for lysosomal diseases: correction of mucopolysaccharidosis type I using genome-edited hematopoietic stem and progenitor cells
8:45	Yewande E.O. Pearse Los Angeles Biomedical Research Institute at Harbour-UCLA Torrance, CA, United States	Neural stem cells provide continuous enzyme replacement therapy and reduce neuropathology in Sanfilippo syndrome type B mice
9:00	Stuart M. Ellison University of Manchester Manchester, United Kingdom	Pre-clinical safety and efficacy evaluation of GMP lentiviral vector in preparation for a clinical trial of hematopoietic stem cell gene therapy in MPS IIIA
9:15	Manuela Corti University of Florida Gainesville, FL, United States	Enabling redosing of AAV by immune management in Pompe disease: preclinical to clinical studies
9:30	Shaun Brothers University of Miami Miller School of Medicine Miami, FL, United States	Novel small molecule therapy development for MPS I
9:45	Break and Exhibits
10:15	Nina Raben National Institutes of Health Bethesda, MD, United States	A major advance in the search for more effective therapy for Pompe disease
10:30	Iris Alroy Eloxx Phramaceuticals Waltham, MA, United States	Translational read-through of CTNS nonsense mutations and attenuation of CTNS nonsense-mediated mRNA decay by ELX-02 treatment
10:45	Eugeni V. Entchev Inventiva 21121 Daix, France	Odiparcil is a promising substrate reduction therapy in MPS VI murine model
11:00	C. Ronald Scott University of Washington Seattle, WA, United States	A high performance assay for the detection of MPS disorders, MLD, and CTX, from newborn blood spots
11:15	Anuj Chauhan University of Florida Gainesville, FL, United States	Contact lens based therapy for ocular cystinosis
11:30	Yedda Li Washington University in St. Louis Saint Louis, MO, United States	Combination therapy increases lifespan and improves clinicobehavioral performance in the murine model of globoid cell leukodystrophy
11:45	Lunch – On Own or Satellite Symposia; Exhibit Hall Open

Translational Research II

Co-Chairs: Rashmi Gopal-Srivastava & James Cloyd

1:00	Thomas Wechsler Sangamo Therapeutics Richmond, CA, United States	ZFN-mediated in vivo genome editing of hepatocytes results in phenotypic correction in murine MPS I and MPS II models
1:15	Silvere Pagant Icahn School of Medicine at Mount Sinai New York, NY, United States	ZFN-mediated in vivo genome editing results in therapeutic levels of α-galactosidase A and effective substrate reduction in Fabry knockout mice
1:30	Cristin Davidson Albert Einstein College of Medicine Bronx, NY, United States	Gene therapy for the treatment of Niemann-Pick disease type C1: comparison of AAV9 to a novel serotype, AAV-PHP.B
1:45	Ying Sun Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Systemic delivery of acid β-glucosidase by SapC-based nanovesicles for neuronopathic Gaucher disease therapy
2:00	Anita Grover BioMarin Pharmaceutical Inc Novato, CA, United States	Translational dose-response and frequency scaling for BMN 250 administered via the intracerebroventricular route: predicting a clinically effective dosing regimen from animal models of disease for the treatment of Sanfilippo syndrome type B
2:15	Ai Yin Liao University of Manchester Manchester, United Kingdom	Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I
2:30	Derek Kelaita ArmaGen Inc. Calabasas, CA, United States	Platform technology for treatment of the brain in lysosomal disorders
2:45	Break and Exhibits
3:15	Hiroyuki Sonoda JCR Pharmaceuticals Kobe, Japan	Blood-brain barrier-penetrating iduronate-2-sulfatase reduces brain glycosaminoglycans in mouse model of mucopolysaccharidosis type II
3:30	David G. Warnock University of Alabama Birmingham, AL, United States	Enhanced pharmacokinetics profile of pegunigalsidase alfa (PRX-102) supports once-monthly 2mg/kg dosing for the treatment of Fabry disease
3:45	Andrew Baik Regeneron Pharmaceuticals Tarrytown, NY, United States	Next-generation antibody-guided enzyme replacement therapy in Pompe disease mice
4:00	Kelly George Sanofi Genzyme Framingham, MA, United States	Comprehensive exploratory study to identify novel biomarkers of Pompe disease
4:15	John Sinclair BioMarin Pharmaceutical Inc. Novato, CA, United States	Intravitreal enzyme replacement therapy attenuates retinal disease progression in a canine model of neuronal ceroid lipofuscinosis type 2 (CLN2)
4:30	Poster Reception in the Exhibit Hall	Poster presenters with First Author Last Name starting with M-Z and all Late-Breaking abstracts displayed
6:30	Satellite Symposium

Clinical research. The entire third day of WORLDSymposium was committed to presentations of results from clinical trials, which in most cases is the actual application of new agents in humans affected by these conditions. Day 3 also included presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2018 program (PDF 175KB).

Clinical Trials I

Co-Chairs: Michael Mauer & Ellen Sidransky

6:30	Satellite Symposium
7:40	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Announcements
7:45	R. Rodney Howell University of Miami Miami, FL, United States	Keynote Address: What innovation has changed medical care more than newborn screening?
8:15	Amy Gaviglio Minnesota Department of Health Minneapolis, MN, United States	State of national implementation for lysosomal diseases
8:30	Stacey A. Wong Invitae San Francisco, CA, United States	Copy number variation analysis by next-generation sequencing enhances molecular diagnostic yield of lysosomal diseases
8:45	Lynda E. Polgreen LA BioMed at Harbor-UCLA Torrance, CA, United States	Open-label, single arm, pilot study of intravenous laronidase following allogeneic transplantation for Hurler syndrome
9:00	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Final results of the first-in-human open-label study of intravenous SBC-103 in children with mucopolysaccharidosis type IIIB
9:15	Nicole Muschol University Medical Center Hamburg-Eppendorf Hamburg, Germany	ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)
9:30	Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany	Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: two year results from an ongoing multicenter extension study
9:45	Break
10:15	Joseph Muenzer University of North Carolina at Chapel Hill Chapel Hill, NC, United States	Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: design and methods of a controlled, randomized, phase II/III multicenter study
10:30	Roberto Giugliani Hospital de Clínicas de Porto Alegre and UFRGS Porto Alegre, Brazil	Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I
10:45	Caroline Sevin Neuropediatrics Unit, Bicêtre Hospital Le Kremlin-Bicetre, France	Intracerebral gene therapy in children with metachromatic leukodystrophy: results of a phase I/II trial
11:00	Kevin M. Flanigan Center for Gene Therapy, Nationwide Children’s Hospital Columbus, OH, United States	A phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.HSGSH for MPS IIIA: safety, tolerability, and preliminary evidence of biopotency
11:15	Sophie Olivier Lysogene Paris, France	Five years of clinical data in a direct to CNS gene therapy trial to address the severe lethal neurological manifestations of MPS IIIA
11:30	Torayuki Okuyama National Center for Child Health and Development Tokyo, Japan	Novel blood-brain barrier delivery system to treat CNS in MPS II – first clinical trial by anti-transferrin receptor antibody fused enzyme therapy
11:45	Lunch – On Own or Satellite Symposia

Clinical Trials II

Co-Chairs: Steve Groft & Uma Ramaswami

1:00	Raymond Wang Children’s Hospital of Orange County Orange, CA, United States	Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII
1:15	Franklin K. Johnson Amicus Therapeutics Cranbury, NJ, United States	First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease
1:30	Paul Harmatz Children’s Hospital Oakland Oakland, CA, United States	Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial
1:45	Caren Swift Baylor Research Institute Dallas, TX, United States	Ten years of migalastat treatment in a patient with Fabry disease: a case report
2:00	Julia B. Hennermann University Medical Center Mainz Mainz, Germany	Pharmacokinetics, pharmacodynamics, and safety of moss agalactosidase A in patients with Fabry disease
2:15	Derralynn Hughes Royal Free London NHS FT & UC London, United Kingdom	Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England
2:30	Simon A. Jones Central Manchester University Hospitals NHS Foundation Trust St Mary’s Hospital Manchester, United Kingdom	Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: results from two studies
2:45	Break
3:15	Livia D. Paskulin Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil	Taliglucerase-alpha and Gaucher disease type 1: a five-year follow-up
3:30	David J. Kuter Massachusetts General Hospital Boston, MA, United States	Open-label expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy
3:45	Joel Charrow Northwestern University Feinberg School of Medicine, Ann and Robert H. Lurie Children’s Hospital of Chicago Chicago, IL, United States	Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1
4:00	Heather A. Lau New York University New York, NY, United States	Long-term treatment response based on severity of Gaucher disease type 1 at baseline after 8 years of treatment with oral eliglustat: final efficacy and safety results from a phase 2 clinical trial in treatment-naïve adult patients
4:15	M. Judith Peterschmitt Sanofi Genzyme Cambridge, MA, United States	Evaluation of glucosyl ceramide synthase (GCS) inhibition for GBA-associated Parkinson’s disease
4:30	Networking Reception	Open to All Attendees; Seaport Foyer

*This was a preliminary program only. ALL times and speakers were subject to change. Updates were made weekly.

2018 Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-art for Experts

Monday, February 5, 2018 from 1:00 – 5:00 PM

For the sixth consecutive year, WORLDSymposium^™ began with “Emerging Trends” on Monday afternoon, February 5, 2018 at 1:00 PM. This 4-hour CME course provided a state-of-the-art update for experts working in lysosomal biology and lysosomal diseases. This course was a summary of the latest research trends and other advances in the field.

Seasoned researchers provide a global review of the past years’ advances, a state-of-the-art overview of lysosome biology, diseases and therapies. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course was intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases. This course was taught at the postgraduate level, e.g., those with a PhD, MD, PharmD, DDS, MS, MPH, etc.

The content provided comprehensive information on lysosomal diseases, but does not overlap or replace the scientific data being presented during WORLDSymposium 2018. Registration Required.

Learning Objectives

Upon completion of this educational activity, the participant should be better able to:

Describe the basic structure, function and molecular biology of lysosomes.
Identify specific lysosomal diseases, their clinical manifestations, and means of diagnosis.
Review current treatments for lysosomal diseases, the potential side effects, and their expected clinical outcomes.
Correlate the molecular biology of lysosomes with clinical features, diagnostic testing, and treatment approaches.

Preliminary Agenda

1:00 PM
Introduction and Overview of Course
Chester B. Whitley, PhD, MD

1:10 PM
Lysosomal Disease Phenotypes
Chester B. Whitley, PhD, MD

1:35 PM
Normal Lysosomal Function
Steven U. Walkley, DVM, PhD

2:00 PM
Break

2:05 PM
Remarkable Cases I
Marc C. Patterson, MD

2:30 PM
Lysosomal Pathogenesis
Steven U. Walkley, DVM, PhD

2:55 PM
Refreshment Break

3:10 PM
Current Treatments for Lysosomal Diseases
Jeanine R. Jarnes, PharmD

3:35 PM
Newborn Screening
R. Rodney Howell, MD

4:00 PM
Break

4:05 PM
Future Treatments for Lysosomal Diseases
Jeanine R. Jarnes, PharmD

4:30 PM
Remarkable Cases II
Marc C. Patterson, MD

4:55 PM
Final Evaluation
Chester B. Whitley, PhD, MD

5:00 PM
Adjourn

Invited Faculty

Chair: Chester B. Whitley, PhD, MD
Course Director
WORLDSymposium and “Emerging Trends: State-of-the-Art for Experts”
Professor, Department of Pediatrics, and
Experimental and Clinical Pharmacology
University of Minnesota
Principal Investigator, Lysosomal Disease Network
Minneapolis, MN, USA

Steven U. Walkley, DVM, PhD
Director, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center
Head, Sidney Weisner Laboratory of Genetic Neurological Disease
Departments of Neuroscience, Pathology and Neurology
Rose F. Kennedy Center
Albert Einstein College of Medicine
Bronx, NY, USA

Marc C. Patterson, MD, FRACP
Professor of Neurology, Pediatrics and Medical Genetics
Editor-in-Chief, Journal of Child Neurology and Child Neurology Open
Editor, Journal of Inherited Metabolic Disease and JIMD Reports
Mayo Clinic Children’s Center
Rochester, MN, USA

Jeanine R. Jarnes, PharmD, BCOP, BCPS
Adjunct Assistant Professor, Experimental and Clinical Pharmacology
College of Pharmacy
University of Minnesota, Fairview
Minneapolis, MN, USA

R. Rodney Howell, MD, FAAP, FACMG
Professor of Pediatrics, Chairman Emeritus
Member, Hussman Institute for Human Genomics
Miller School of Medicine, University of Miami
Miami, Fl, USA

2018 New Treatment Awards

In recognition of achieving major milestones, WORLDSymposium honors “new treatments” that were viewed as providing value to patients with lysosomal diseases, and general acceptance as evidenced by approval by the U.S. Food and Drug Administration, European Medicines Agency, and other regulatory authorities. Two new treatments were recognized with the WORLDSymposium 2018 New Treatment Award:

Cerliponase alfa (Brineura™, BioMarin)
On April 27, 2017, cerliponase alfa (Brineura™, BioMarin) became the first approved treatment for CLN2, (a form of Batten disease), by the U.S. Food and Drug Administration. It is indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older, with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency. CLN2 disease is an ultra-rare and rapidly progressing brain disorder that affects an estimated 20 children born in the United States each year – less than one in a million Americans. Notably, cerliponase alfa is the first enzyme replacement therapy to be directly administered into the cerebrospinal fluid of the central nervous system. It is aimed at treating the underlying cause of CLN2 disease by replacing the deficient TPP1 enzyme missing in affected children.

Vestronidase alfa (MEPSEVII™, Ultragenyx)
On November 15, 2017, the U.S. Food and Drug Administration approved vestronidase alfa (MEPSEVII™, Ultragenyx) to treat pediatric and adult patients affected with mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is an extremely rare, progressive condition that affects most tissues and organs.

WORLDSymposium presented the New Treatment Awards on Monday, February 5, 2018, at 5:15 PM in the Harbor Foyer, followed by the Opening Reception in the Exhibit Hall.

2018 WORLDSymposium Young Investigator Awards Announced

Congratulations to the ten individuals selected to receive the WORLDSymposium Young Investigator Award for 2018. The award was a partial scholarship towards attendance at WORLDSymposium 2018. Numerous individuals submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applicants.

WORLDSymposium would like to congratulate all of the applicants for their hard work. The following individuals received the WORLDSymposium Young Investigator Award for 2018 and were recognized at the Award Ceremony and Opening Reception on Monday, February 5 at 5:15 PM in the Harbor Foyer:

Rebecca Ahrens-Nicklas
Natalia Gomez-Ospina
Zhirui Jiang
Christina Mikulka
Salvatore Molino
Murtaza Nagree
Yanyan Peng
Roselena Schuh
Jenny Serra Vinardell
Nadav Weinstock

Mark E. Haskins, VMD, PHD Received the 2018 Roscoe O. Brady Award for Innovation and Accomplishment

Dr. Haskins has a career that spans over 40 years, from his beginning as a NIH Medical Genetics Trainee in 1975 working on MPS VI, through his appointment as Professor Emeritus in 2014. His career in lysosomal disease research has been focused on the MPS diseases. His research has been conducted at the University of Pennsylvania, which he has helped to make a preeminent center of large animal model work in the area of lysosomal diseases. He is known as one of the most collaborative, innovative, and successful researchers in the field. His research in large animal models ran a parallel course to the important developments in the basic cell and molecular biology of lysosomal diseases from the 1970s to the 1990s. When the foundations in biochemistry and molecular genetics in lysosomal disease made the prospects of therapy possible beginning in the 1990s, Dr. Haskins’ leadership in the preservation, development, and elucidation of dozens of large animal models, meant that models were ready to be used to help advance treatment development for patients. He has collaborated in a meaningful way with numerous ground-breaking researchers in the field both nationally and internationally. Over several decades he has participated in and helped lead critical work on pathogenesis and therapies including bone marrow transplantation, enzyme replacement therapy, novel medical therapy and gene therapy. He has been an active mentor of all levels of students including undergraduates, graduates, residents, post-docs and junior faculty. Dr. Haskins has also served in important capacities in multiple advocacy and research funding organizations, including the National MPS Society and the National Tay-Sachs and Allied Disease foundations.

Dr. Haskins received the 2018 Roscoe O. Brady Award for Innovation and Accomplishment at the opening session of WORLDSymposium 2018 on Tuesday, February 6, 2018 at 7:45 AM.

Jack Johnson Received 2018 Patient Advocate Leader (PAL) Award

Each year, WORLDSymposium recognizes one individual for patient advocacy leadership in the field of lysosomal disease. The 2018 Patient Advocate Leader (PAL) award will be presented to Jack Johnson, founder of the Fabry Support & Information Group.

Jack is a founding member and Executive Director of the Fabry Support & Information Group (FSIG) in the United States, and is also a founding member and Vice President and Board Member of the Fabry International Network (FIN). It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education, and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members. Jack’s active role in the Fabry community on a national and international level has helped not only increase awareness for Fabry disease, but also has directly benefitted numerous people who have been diagnosed with Fabry disease. Jack is able to bring his own experiences as a Fabry patient to his international advocacy work. Jack is a tireless advocate, and continues to champion patient meetings, fundraisers, and awareness activities for people affected by Fabry disease.

WORLDSymposium honored Jack with the 2018 Patient Advocate Leader Award on Wednesday, February 7, 2018 at 7:45 AM prior to the start of the Translational Research presentations at WORLDSymposium 2018.

Petra Kaufmann, MD, MSc delivered Keynote on Wednesday, February 7, 2018

Petra Kaufmann is director of the NCATS Office of Rare Diseases Research. Her work includes overseeing the Rare Diseases Clinical Research Network program, Genetic and Rare Diseases Information Center, and the NCATS Toolkit for Patient-Focused Therapy Development. Kaufmann focuses on engaging a broad range of rare diseases research stakeholders to accelerate translation from discovery to health benefits through use of innovative methods and tools.

Before joining NCATS, Kaufmann was the director of the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke (NINDS), where she worked with investigators to plan and execute a large portfolio of clinical research studies and trials in neurological disorders, including many in rare diseases. She established NeuroNEXT, a trial network for Phase II trials using a central institutional review board, streamlined contracting, active patient participation in all project phases, and a scientific and legal framework for partnership with industry. Kaufmann also promoted data sharing, working with multiple stakeholders from the academic, patient organization and industry sectors to develop data standards for more than 10 neurological diseases.

A native of Germany, Kaufmann earned her MD from the University of Bonn and her MSc in biostatistics from Columbia University’s Mailman School of Public Health. She completed an internship in medicine at St. Luke’s/Roosevelt (now part of Mt. Sinai) in New York City, training in neurology and clinical neurophysiology at Columbia University, and a postdoctoral fellowship in the molecular biology of mitochondrial diseases at Columbia’s H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases. Before joining NINDS, Kaufmann was a tenured associate professor of neurology at Columbia, where she worked as a researcher and clinician in the neuromuscular division, the electromyography laboratories and the pediatric neuromuscular clinic.

She has served on scientific advisory committees for many rare disease organizations and is a member of the American Academy of Neurology Science Committee, the International Rare Disease Research Consortium Interdisciplinary Scientific Committee and the Clinical Trial Transformation Initiative Steering Committee.

Kaufmann is board certified in neurology, neuromuscular medicine and electrodiagnostic medicine. She currently sees patients in the Muscular Dystrophy Association Clinic at Children’s National Medical Center in Washington, DC.

Dr. Kaufmann delivered the Keynote Address at WORLDSymposium 2018 on Wednesday, February 7, 2018 at 8:00 AM.

R. Rodney Howell, MD Delivered Keynote on Thursday, February 8, 2018

R. Rodney Howell, MD is Professor of Pediatrics and a Member of the Hussman Institute for Human Genomics, at the Miller School of Medicine of the University of Miami. He is certified by the American Board of Pediatrics and the American Board of Medical Genetics in the area of Clinical Biochemical Genetics.

Dr. Howell received the Lifetime Achievement Award from the Duke University Medical Alumni Association, the Lifetime Achievement Award of the American College of Medical Genetics Foundation, and the Lifetime Achievement Award in Genetics from the March of Dimes. To commemorate the 30th anniversary of the Federal Rare Disease Act, he was named one of the 30 Rare Disease Heroes by the U. S. Food and Drug Administration. In 2015, Dr. Howell was the first recipient of the Advocacy Award from the American Society of Human Genetics for his excellence and achievement in the applications of human genetics.

Dr. Howell was the Founding Chair (2004-2011) of the Advisory Committee of Heritable Disorders in Newborns and Children, the congressionally-mandated Committee that advises the Secretary of HHS on issues concerning newborn screening and the Recommended Uniform Newborn Screening Panel (RUSP). Dr. Howell has served as Chairman of the Muscular Dystrophy Association Board of Directors since 2007. He was elected President of the International Society of Neonatal Screening, based in The Netherlands, in 2016.

Dr. Howell delivered the Keynote Address at WORLDSymposium 2018 on Thursday, February 8, 2018 at 7:45 AM.

2019 Satellite Symposia Schedule

Monday Dinner, February 4, 2019, 6:30 – 8:30 PM
Unraveling a Therapeutic Conundrum: ASMD Niemann-Pick Disease
CME Satellite Symposium. Accredited provider: EXCEL Continuing Education.
Supported by an educational grant from Sanofi Genzyme.

Monday Dinner, February 4, 2019, 6:30 – 8:30 PM
Bridging the Gap Between Research and Clinical Advances in Gaucher Disease Type 3
CME Satellite Symposium. Accredited provider: MedIQ.
Supported by an educational grant from Sanofi Genzyme.

Tuesday Breakfast, February 5, 2019, 6:15 – 7:15 AM
Monitoring Disease Burden and Assessing the Biochemical, Cellular and Clinical Response to Therapy in Fabry Disease
Supported by Sanofi Genzyme.
This satellite is open only to registered attendees from outside the United States. International participants only.

Tuesday Breakfast, February 5, 2019, 6:15 – 7:15 AM
Advances in the Diagnosis of MPS Disorders
Supported by Ultragenyx Pharmaceutical.

Tuesday Lunch, February 5, 2019, 11:45 AM – 12:45 PM
Treatment Experience in CLN2 Disease – New 3 Year Data and Case Review
Supported by BioMarin Pharmaceutical Inc.

Tuesday Lunch, February 5, 2019, 11:45 AM – 12:45 PM
Biomarkers: Ready for Prime Time in the Clinical Management of Lysosomal Diseases?
Supported by Takeda.

Tuesday Dinner, February 5, 2019, 6:30 – 8:30 PM
Sphingolipids: Opening the Black Box
Supported by Sanofi Genzyme.

Tuesday Dinner, February 5, 2019, 6:30 – 8:30 PM
An Evening of Stories with Friends: How Academics, Patients, and Industry Collaborate to Develop New Therapies for Pompe Disease and Other Lysosomal Disorders
Supported by Amicus Therapeutics, Inc.

Wednesday Breakfast, February 6, 2019, 6:15 – 7:15 AM
Gaucher Disease Type 1 Long-Term Treatment Options: The Case for a Long-Term Oral Treatment Option for the Eligible Gaucher Type 1 Patients.
Now with New Long-Term Data for Naïve and Switch Patients
Supported by Sanofi Genzyme.

Wednesday Lunch, February 6, 2019, 11:45 AM – 12:45 PM
Precision Medicine in Fabry Disease: A New Approach to Treat the Classic Phenotype Patient
Supported by Amicus Therapeutics, Inc.

Wednesday Lunch, February 6, 2019, 11:45 AM – 12:45 PM
Moving Forward to Optimal Management of MPS IVA and VI Patients
Supported by BioMarin Pharmaceutical Inc.

Wednesday Dinner, February 6, 2019, 6:30 – 8:30 PM
Hand in Hand: A Patient and Physician Journey in Pompe Disease
Supported by Sanofi Genzyme.

Wednesday Dinner, February 6, 2019, 6:30 – 8:30 PM
TOO RARE? Facing Diagnostic and Clinical Development Challenges in Alpha-mannosidosis
Supported by Chiesi Farmaceutici S.p.A.
This satellite is open only to registered attendees from outside the United States. International participants only.

Thursday Breakfast, February 7, 2019, 6:15 – 7:15 AM
Fabry Disease: Treatment Guidelines to Optimize Patient Outcomes
Supported by Sanofi Genzyme.

Thursday Lunch, February 7, 2019, 11:45 AM – 12:45 PM
Managing Fabry Disease – Current Real World Evidence and Future Advances
Supported by Amicus Therapeutics, Inc.
This satellite is open only to registered attendees from outside the United States. International participants only.

Thursday Lunch, February 7, 2019, 11:45 AM – 12:45 PM
Growth and Skeletal Complications in MPS: Future Directions
Supported by Sanofi Genzyme.

Registration for the 15th Annual Scientific Meeting and an official WORLDSymposium name badge were required to attend any of the satellite symposia.

These Satellite Symposia are not part of the official WORLDSymposium™ 2019 program, and WORLDSymposium does not approve or endorse any commercial products or services discussed during these Symposia or offered for sale by the corporate supporter of the Symposium. These Symposia may or may not offer CME credits; these sessions are not approved for CME through WORLDSymposium.

2019 PATIENT ADVOCATE SHOWCASE

Batten Disease Support and Research Association

Cure GMI 1 Foundation

The CURE GM1 FOUNDATION’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. There are no paid employees and there are extremely minimal overhead costs. This nonprofit organization was founded by parents of children who suffer from GM1 who seek to save the lives of all those who suffer from this wretched condition.

Cure Sanfilippo Foundation

EveryLife Foundation for Rare Diseases

Global Genes

Global Genes® is a leading rare disease patient advocacy organization. Our mission is to create a globally connected community equipped to eliminate the challenges of rare disease. We achieve this through connecting, empowering and inspiring the rare disease community.

Living in the Light

A patient advocacy initiative utilizing the potency of photography and compelling narratives to educate about the realities of life faced by rare diseases.

MLD Foundation

National Fabry Disease Foundation

The National Fabry Disease Foundation (NFDF) is a voluntary organization whose mission is to support the Fabry disease community through education, identification, assistance, research and advocacy. Their primary function is to educate physicians, families and the public in order to help facilitate the diagnosis of Fabry disease and the offering of life-saving treatment, and to assist patients and their families in coping with Fabry disease.

National MPS Society

National Organization of Rare Disorders (NORD)

STAR Foundation

Star Foundation is a 501-c- 3 charity dedicated to funding Scientific Research focusing on Salla Disease, which is one of the Sialic Acid Storage Disorders.

2019 EXHIBITORS

Alexion Pharmaceuticals

Amicus Therapeutics, Inc.

Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases.

Audentes Therapeutics

Bio Insight Group

At Bio Insight Group, we leverage our award-winning video and animation services with a senior team of former brand leaders to elevate the impact of your life-saving therapy. Our expertise is in rare diseases and specialty therapies and we are hired by both brand teams and Agencies of Record due to our highly specialized services and ability to make an immediate and significant impact for our clients. We operate under a sense of urgency and continue to earn new business through our expertise, accountability, and passion for helping patients living with devastating diseases.

BioMarin Pharmaceutical

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only therapies for PKU, LEMS, MPS I, MPS VI, MPS IVA, and CLN2 disease. Clinical development programs include investigational therapies for Hemophilia A, Achondroplasia, MPS IIIB, Friedreich’s Ataxia and other rare diseases.

Carbosynth

Manufacturer of Enzyme Substrates for Laboratory use for Lysosomal Storage Diseases.

Chiesi Farmaceutici S.p.A.

Diplomat Specialty Infusion Group

Diplomat Specialty Infusion Group is a national pharmacy and home infusion/nursing services provider specializing in the delivery of enzyme replacement therapies. With pharmacy locations and nursing staff across the country, Diplomat offers the highest level of personalized care at home.

Enzyvant

Enzyvant is a biopharmaceutical company focused on developing innovative treatments for patients with rare diseases. Enzyvant has initiated a rolling BLA submission with the FDA for RVT-802, an investigational tissue-based therapy for the treatment of primary immunodeficiency associated with complete DiGeorge Anomaly. Enzyvant is simultaneously initiating a clinical trial of RVT-801, an investigational enzyme replacement therapy for the treatment of Farber disease. Enzyvant plans to develop treatments for additional rare diseases with high unmet need.

European Gaucher Disease Network

We are establishing a multi-disciplinary team of advisors, including physicians, patients and industry, to help us assess the quality of the current treatment and care services provided by hematologists to GD patients around the globe. We are providing a trusted Online GD Resource for hematologists, patients, their families and carers.

Fairview Specialty Pharmacy

Greenwood Genetic Center

Invitae

Invitae’s mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Our goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time and lower prices.

JCR Pharmaceuticals Co., Ltd.

JCR is a specialty pharma engaged in the research, development, manufacture and marketing of biopharmaceuticals and regenerative medicine with a focus on rare diseases. Its philosophy, ”Contributing towards people’s healthcare through pharmaceutical products” drives JCR to create innovative pharmaceutical products as value-added treatment options for the under-served patient community.

Lukare Medical, LLC

Lukare Medical is a specialty pharma company that markets Elliotts B Solution (buffered intrathecal electrolyte/dextrose solution) (EBS). EBS is a diluent for the administration of intrathecal chemotherapies to help lesson the side effects. EBS is comparable to CSF in pH, electrolyte composition, glucose content and osmolarity.

Lysogene

Lysogene is a gene therapy company focused on the treatment of orphan CNS diseases. The company has built a unique capability to enable a safe and effective delivery of gene therapies to the CNS. A pivotal clinical trial in MPS IIIA in partnership with Sarepta Therapeutics is ongoing and a phase 1-2 clinical trial in GM1 Gangliosidosis is in preparation.

Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

Mayo Clinic Laboratories

Mayo Clinic Laboratories partners with health care organizations around the globe to help answer the most complex questions facing patients. With the most sophisticated test menu in the world, laboratory diagnostic testing and pathology services from Mayo Clinic span every medical subspecialty. We are committed to putting the needs of all patients first by focusing on providing clinically relevant answers, not just test results.

Pfizer, Inc.

Protalix Ltd.

Protalix is dedicated to discovering, developing, and marketing recombinant therapeutic proteins with potentially improved clinical profiles, produced with our ProCellEx® plant cell-based protein expression platform. Our first approved product was taliglicerase alfa for Gaucher disease. Our pipeline includes pegunigalsidase alfa, a novel enzyme replacement therapy in phase III studies for the treatment of Fabry disease and other investigational products in clinical development for inflammatory bowel disease and cystic fibrosis.

QPS Austria GmbH

QPS Austria is a leading CRO for CNS drug discovery and development. The preclinical department routinely performs studies using in vitro and in vivo models for lysosomal storage and neurodegenerative diseases. Models are evaluated by behavioral, histological and biochemical readouts. The clinical department performs clinical studies of different phases.

Retrophin, Inc.

Retrophin is a biopharmaceutical company dedicated to delivering life-changing therapies to people living with rare diseases who have few, if any, treatment options.

Sangamo Therapeutics, Inc.

Sanofi Genzyme

Swedish Orphan Biovitrum AB

Sobi™ is an international biopharmaceutical company dedicated to rare diseases. Our vision is to be recognised as a global leader in providing access to innovative treatments that transform lives for individuals with rare diseases. The product portfolio is primarily focused on treatments in Hemophilia, Immunology and Specialty Care.

Takeda

Shire is now part of Takeda. Takeda is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. We focus R&D efforts on four therapeutic areas: Oncology, Gastroenterology, Neuroscience and Rare Diseases. We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines.